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Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.

Bo SunOmid M T RouzbehaniRyan J KramerRajeshwary GhoshRobin M PerelliSage AtkinsAmir Nima FatahianKathryn DavisMarta W SzulikMichael A GoodmanMarissa A HathawayEllenor ChiTarah A WordHari TunuguntlaSusan W DenfieldXander H T WehrensKevin J WhiteheadHala Y AbdelnasserJunco S WarrenMingfu WuSarah FranklinSihem BoudinaAndrew P Landstrom
Published in: Circulation. Heart failure (2023)
variant impairs myocardial development resulting in noncompaction cardiomyopathy in humans and mice associated with altered TGF-β signaling.
Keyphrases
  • heart failure
  • transforming growth factor
  • left ventricular
  • high fat diet induced
  • epithelial mesenchymal transition
  • wild type
  • metabolic syndrome
  • adipose tissue
  • skeletal muscle